Molybdenum cofactor deficiency in a Malaysian child

Lock Hock Ngu, B. Afroze, B. C. Chen, O. Affandi, M. Y. Zabedah

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


Molybdenum cofactor deficiency is a rare autosomal recessive disorder with devastating neurological manifestations, characterised by neonatal-onset encephalopathy mimicking hypoxic-ischaemic insult, intractable seizure, and feeding and respiratory diff iculties. It is often fatal in the early life. We report an affected 8-year-old boy, who has presented with severe neurological manifestations since birth, but without clinically-significant seizure. Molybdenum cofactor def iciency must be included in the differential diagnosis of patients presenting with unexplained encephalopathy in the newborn period, and whose neuroimaging findings are consistent with hypoxic ischaemic encephalopathy. The classic laboratory hallmark of this disorder is low serum uric acid, positive urine sulphite dipstick test, and elevated urinary S-sulphocysteine, hypoxanthine and xanthine.

Original languageEnglish
Pages (from-to)e365-e367
JournalSingapore Medical Journal
Issue number10
Publication statusPublished - Oct 2009
Externally publishedYes


  • Molybdenum cofactor deficiency
  • S-sulphocysteine
  • Uric acid
  • Urine sulphite


Dive into the research topics of 'Molybdenum cofactor deficiency in a Malaysian child'. Together they form a unique fingerprint.

Cite this